Variant report

Variant	rs4605050
Chromosome Location	chr13:51645674-51645675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12869642	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12870315	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12870383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1328358	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942946	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561609	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561610	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7325888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7337587	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7338712	0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs751539	1.00[ASW][hapmap];0.93[CHB][hapmap];0.80[CHD][hapmap]
rs9535562	0.86[CHB][hapmap]
rs9535567	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9535573	0.95[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes]
rs9535575	0.80[AMR][1000 genomes]
rs9563016	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9596435	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4605050	GUCY1B2	cis	Nerve Tibial	GTEx
rs4605050	GUCY1B2	cis	Esophagus Mucosa	GTEx
rs4605050	NUDT15	cis	parietal	SCAN
rs4605050	GUCY1B2	cis	Skin Sun Exposed Lower leg	GTEx
rs4605050	GUCY1B2	cis	lung	GTEx
rs4605050	GUCY1B2	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:51643800-51646000	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:51644000-51645800	Enhancers	Fetal Thymus	thymus
6	chr13:51644400-51646400	Enhancers	Dnd41	blood
7	chr13:51645600-51645800	Enhancers	H1 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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